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1.
Eur J Endocrinol ; 182(3): C9-C12, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31972544

RESUMO

Primary adrenal insufficiency (PAI) in children is mostly due to genetic defects. The understanding of the molecular genetics of the causes of adrenal insufficiency in the pediatric population has made significant progress during the last years. It has been shown that inherited PAI can lead to certain clinical manifestations and health problems in children beyond the adrenals. Organ dysfunctions associated with different forms of PAI in children include a wide range of organs such as gonads, brain, heart, bone, growth, bone marrow, kidney, skin, parathyroid, and thyroid. Diagnosing the correct genetic cause of PAI in children is therefore crucial to adequately control long-term treatment and follow-up in such patients.


Assuntos
Doença de Addison/genética , Hiperplasia Suprarrenal Congênita/genética , Doença de Addison/complicações , Doença de Addison/diagnóstico , Doença de Addison/fisiopatologia , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/fisiopatologia , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/fisiopatologia , Encefalopatias/etiologia , Encefalopatias/genética , Encefalopatias/fisiopatologia , Cardiomiopatias/etiologia , Cardiomiopatias/genética , Cardiomiopatias/fisiopatologia , Transtornos do Desenvolvimento Sexual/etiologia , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/fisiopatologia , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/genética , Transtornos do Crescimento/fisiopatologia , Humanos , Hipoadrenocorticismo Familiar/complicações , Hipoadrenocorticismo Familiar/diagnóstico , Hipoadrenocorticismo Familiar/genética , Hipoadrenocorticismo Familiar/fisiopatologia , Síndromes de Imunodeficiência/etiologia , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/fisiopatologia , Técnicas de Diagnóstico Molecular , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/genética , Síndrome Nefrótica/fisiopatologia , Dermatopatias/etiologia , Dermatopatias/genética , Dermatopatias/fisiopatologia
2.
BMJ Case Rep ; 12(9)2019 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-31501175

RESUMO

Polycystic ovary syndrome is the most common cause of hyperandrogenism in young females. Other causes are congenital adrenal hyperplasia (CAH), androgen-producing tumours and drugs. The severity and tempo of virilisation help in distinguishing the tumoural from non-tumoural causes. We report a rare case of non-classic CAH and androgen-producing ovarian tumour in the same patient, causing hyperandrogenism. A 15-year-old female patient presented with secondary amenorrhea, excessive facial hair growth and clitoromegaly for 6 months. Due to severe virilisation, tumoural aetiology was considered. Investigations showed marked elevation of testosterone and mild elevation of 17 hydroxy progesterone (17OHP). Imaging confirmed right ovarian tumour. Adrenocorticotropic hormone stimulated 17OHP, was elevated confirming the diagnosis of underlying non-classic CAH. Surgical removal of the tumour was followed by improvement in hyperandrogenism, but persistent elevation of 17OHP confirmed the underlying presence of non-classic CAH.


Assuntos
Hiperplasia Suprarrenal Congênita/diagnóstico , Tumor de Células de Sertoli-Leydig/diagnóstico , 17-alfa-Hidroxiprogesterona/metabolismo , Adolescente , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/metabolismo , Feminino , Humanos , Achados Incidentais , Salpingo-Ooforectomia , Tumor de Células de Sertoli-Leydig/complicações , Tumor de Células de Sertoli-Leydig/metabolismo , Tumor de Células de Sertoli-Leydig/patologia , Virilismo/etiologia
3.
J Pediatr Endocrinol Metab ; 32(8): 871-877, 2019 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-31271560

RESUMO

Background The present study was designed to evaluate the metabolic profile, cardiovascular risk factors and quality of life in children with congenital adrenal hyperplasia (CAH) and compare it with age- and sex-matched controls. Methods Fifty-two patients aged 3-21 years with classic CAH due to 21-hydroxylase deficiency were included in the study. Metabolic profiling was done for 36 cases and compared with 28 healthy age- and sex-matched controls. Quality of life was assessed in all 52 children and their parents using a validated Pediatric Quality of Life Inventory (PedsQL) questionnaire and was compared with normative data from the same population. Results The median age was 12 years with 14 (27%) males and 38 (73%) females. Out of the total 52 patients, 35 (67%) had salt wasting and 17 (33%) had simple virilising CAH. The median height standard deviation score (SDS) of cases was similar to that of controls (-0.72 vs. -0.64, p = 0.57) and 81% of females had normal pubertal status indicating a good control of the disease. Weight SDS, body mass index (BMI) SDS, mean diastolic blood pressure and insulin resistance were significantly higher in cases when compared to controls (0.31 vs. -0.3; 0.96 vs. 0.17; 67.8 ± 10.49 vs. 61 ± 8.49 and 2.1 vs. 0.95, respectively). The quality of life was significantly reduced in all domains as per parents' perspective, whereas the children reported reduced quality of social and school functioning. There was no significant correlation between quality of life and metabolic parameters. Conclusions Children with CAH despite a reasonably good control of the disease have a higher cardiovascular risk and reduced quality of life when compared to healthy controls.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Biomarcadores/análise , Doenças Cardiovasculares/diagnóstico , Metaboloma , Qualidade de Vida , Adolescente , Adulto , Pressão Sanguínea , Índice de Massa Corporal , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/metabolismo , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Resistência à Insulina , Masculino , Prognóstico , Fatores de Risco , Adulto Jovem
4.
J Pediatr Endocrinol Metab ; 32(7): 683-687, 2019 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-31199773

RESUMO

Objective To investigate the relationship between brain masculinization and retinal thickness in children with congenital adrenal hyperplasia (CAH). Methods Forty-five patients with CAH aged between 4 and 18 years and 30 age-matched healthy controls were included in this prospective study. Macular area was examined with optical coherence tomography (OCT); central subfield thickness (CST), cube volume (CV) and macular retinal thickness (MT) were measured in each subject. A gender identity questionnaire (GIQ) was used for the evaluation of gender happiness index. Results Girls with CAH had a higher CV (p = 0.002) and MT (p = 0.003) than healthy girls. No significant difference was found between boys with CAH and healthy boys regarding the retinal thickness measurements. Mean CST, CV and MT were significantly higher in boys than in girls in the control group (p = 0.013, p < 0.001, respectively), but there was no significant difference in those parameters between girls and boys with CAH. The gender happiness index was not different between healthy boys and boys with CAH, but was significantly lower in girls with CAH than healthy girls (p = 0.01). Conclusions As retina is part of the brain, our finding appears to be a morphological evidence of the excess androgen exposure on brain structures in girls with CAH. In addition, we suggest using retinal thickness measurements as a marker of prenatal excess androgen exposure in future studies.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Encefalopatias/diagnóstico , Retina/patologia , Virilismo/diagnóstico , Adolescente , Encefalopatias/etiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Projetos Piloto , Prognóstico , Estudos Prospectivos , Virilismo/etiologia
5.
J Pediatr Endocrinol Metab ; 32(5): 519-526, 2019 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-31075083

RESUMO

Background Testicular adrenal rest tumors (TARTs) leading to primary gonadal failure are the main etiology of infertility in congenital adrenal hyperplasia (CAH). We aimed at identifying the evolution of TART and related findings in young CAH patients. Methods Twelve male patients (3-23 years old) with 21-hydroxilase deficiency (11 with classic salt-wasting form) were included. Testicular ultrasonography (US) was performed in two moments, by a single blinded specialist in pediatric diagnostic imaging. Tumor progression was classified according to the Response Evaluation Criteria in Solid Tumors (RECIST). The clinical and laboratory data were retrieved from medical records. Serum 17-OH-progesterone (17OHP) and androstenedione concentrations were evaluated during the whole period of follow-up, from the CAH diagnosis. A logistic regression model with repeated measures was developed for the analysis. Results The prevalence of TART was 41.6% (n = 5) in the initial US evaluation and 66.6% (n = 8) after 6 years of follow-up. Tumor progression was detected in 4 of the 5 patients, and 1 presented with a stable tumor. Three patients presented with new tumors in the second evaluation. Most of the patients (n = 11) were pubertal, including a 7-year-old child with TART who presented with central precocious puberty. At regression analysis, it was observed that an inadequate hormonal control led to a 16 times greater chance of a patient to present with TART (OR = 16.08; confidence interval [CI] 95% = 2.38-108.81; p = 0.004). Conclusions We found a high prevalence of progressive TART in young pubertal subjects. US testicular screening should help in improving therapeutic optimization in CAH patients to reduce future impairment in fertility.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Tumor de Resto Suprarrenal/etiologia , Neoplasias Testiculares/etiologia , Adolescente , Hiperplasia Suprarrenal Congênita/diagnóstico por imagem , Hiperplasia Suprarrenal Congênita/patologia , Tumor de Resto Suprarrenal/diagnóstico por imagem , Tumor de Resto Suprarrenal/patologia , Adulto , Criança , Pré-Escolar , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Prognóstico , Neoplasias Testiculares/diagnóstico por imagem , Neoplasias Testiculares/patologia , Fatores de Tempo , Ultrassonografia , Adulto Jovem
6.
Best Pract Res Clin Endocrinol Metab ; 33(3): 101273, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31027974

RESUMO

Peripheral precocious puberty results from peripheral production of sex steroids independent of activation of the hypothalamic-pituitary gonadal axis. It is much less common than central precocious puberty. Causes are variable and can be congenital or acquired. In this review, we will discuss the diagnosis and management of the most common etiologies including congenital adrenal hyperplasia, McCune Albright syndrome, familial male-limited precocious puberty, and adrenal and gonadal tumors.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Puberdade Precoce/etiologia , Neoplasias das Glândulas Suprarrenais/complicações , Feminino , Displasia Fibrosa Poliostótica/complicações , Humanos , Masculino , Puberdade Precoce/complicações , Puberdade Precoce/diagnóstico , Puberdade Precoce/terapia
7.
J Pediatr Endocrinol Metab ; 32(5): 543-547, 2019 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-31026224

RESUMO

Background Steroid 21-hydroxylase deficiency is an autosomal recessive disorder, present in 90-95% of all cases with congenital adrenal hyperplasia (CAH). The classical simple virilizing (SV) form of the disease causes virilization of the external genitalia in newborn females and pseudo-precocious puberty in both sexes, due to reactive androgen overproduction. Case presentation We describe a 3.5-year-old girl presenting with pubarche, P2 according to Tanner, advanced bone age of 6 years and 10 months, and high serum levels of 17-hydroxyprogesterone (17-OHP). Molecular analysis of the nine most common pseudogene-derived CYP21A2 point mutations was performed in the patient and her family members using the polymerase chain reaction/amplification-created restriction site (PCR/ACRS) method. We detected the P30L/I172N genotype in the patient. She had inherited a mild P30L mutation from her mother and a severe I172N mutation from her father. Conclusions Although the CAH phenotype is determined by the allele that produces most of the enzyme activity and the mild non-classical (NC) phenotype should be expected, the mild P30L known to be more virilizing probably induced the classical SV phenotype in our patient. A continuous regimen of hydrocortisone at a recommended dose failed to decrease the 17-OHP sufficiently. Careful tapering of the dose did not help, and her pubic hair advanced to P3 according to Tanner. Individually tailored treatment is warranted in this patient.


Assuntos
Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Anti-Inflamatórios/administração & dosagem , Hidrocortisona/administração & dosagem , Mutação , Esteroide 21-Hidroxilase/genética , Virilismo/tratamento farmacológico , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/patologia , Adulto , Criança , Feminino , Genótipo , Humanos , Masculino , Linhagem , Fenótipo , Falha de Tratamento , Virilismo/complicações , Virilismo/patologia
9.
Exp Clin Endocrinol Diabetes ; 127(2-03): 171-177, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30812049

RESUMO

The introduction of newborn screening programmes in most Western countries for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) enables timely introduction of life-saving glucocorticoid replacement in affected babies. Early diagnosis and optimised pediatric care not only successfully led to survival but also allow that almost all patients reach adulthood. Cohort studies in adults, however, provided evidence for significant health problems and co-morbidities of adult patients such as life-threatening adrenal crises, cardiovascular and metabolic health problems, fertility problems, benign endocrine tumours, and osteopenia and osteoporosis. This review summarises the current state of knowledge aiming to emphasize the neccessity of primary and secondary prevention of additional long-term health issues as a major task of health professionals in the care of CAH.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/terapia , Hiperplasia Suprarrenal Congênita/prevenção & controle , Adulto , Criança , Humanos , Recém-Nascido
10.
BMJ Case Rep ; 12(2)2019 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-30739087

RESUMO

Adrenal myelolipomas are relatively rare tumours composed of adipocytes and myeloid cells that arise in response to chronic adrenocorticotropic hormone stimulation. We present the case of bilateral adrenal myelolipomas in a 39-year-old man with untreated congenital adrenal hyperplasia (CAH) presenting with acute adrenal insufficiency and severe virilisation. Phenotypically, he is a man of short stature and has hyperpigmentation of the skin, gingiva and nail beds. Genital examination revealed micropenis and no palpable testes. Laboratory testing was consistent with primary adrenal insufficiency. An abdominal CT showed bilateral adrenal myelolipomas. An MRI of the pelvis revealed female reproductive organs. Chromosome study showed a karyotype of 46,XX. A CYP21A2 gene mutation confirmed diagnosis of CAH with 21-hydroxylase deficiency. The patient was treated with stress dose corticosteroids, subsequently tapered to physiological doses. We review previously reported cases and discussed diagnosis and treatment, including hormonal therapy and psychological approach.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Hiperplasia Suprarrenal Congênita/diagnóstico , Insuficiência Adrenal/diagnóstico , Mielolipoma/diagnóstico por imagem , Corticosteroides/uso terapêutico , Neoplasias das Glândulas Suprarrenais/complicações , Hiperplasia Suprarrenal Congênita/sangue , Hiperplasia Suprarrenal Congênita/complicações , Insuficiência Adrenal/sangue , Insuficiência Adrenal/tratamento farmacológico , Insuficiência Adrenal/etiologia , Adulto , Diagnóstico Tardio , Feminino , Humanos , Imagem por Ressonância Magnética , Mielolipoma/complicações , Tomografia Computadorizada por Raios X , Virilismo/etiologia
11.
BMJ Case Rep ; 12(1)2019 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-30700462

RESUMO

We report a case of a 10-day-old male infant who presented to the emergency department with severe electrolyte imbalance and life-threatening arrhythmia. The parents reported a 3-day history of poor feeding and lethargy. On examination, he was bradycardic (heart rate of 65 beats/min) with signs of dehydration. His ECG showed broad complex bradycardia. Blood gas showed metabolic acidosis with hyponatraemia and hyperkalaemia. A probable diagnosis of congenital adrenal hyperplasia (CAH) with salt-wasting crisis was made and treatment was commenced. He was given saline bolus, nebulised salbutamol, calcium gluconate and hydrocortisone. Following the above interventions, his heart rate rose to 150 beats/min with a regular sinus rhythm within a period of 40 min. The diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. He was discharged home with hydrocortisone, fludrocortisone and sodium chloride.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Arritmias Cardíacas/complicações , Desequilíbrio Hidroeletrolítico/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/terapia , Anti-Inflamatórios/uso terapêutico , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/terapia , Diagnóstico Diferencial , Fludrocortisona/uso terapêutico , Humanos , Hidrocortisona/uso terapêutico , Recém-Nascido , Masculino , Cloreto de Sódio/uso terapêutico , Desequilíbrio Hidroeletrolítico/diagnóstico , Desequilíbrio Hidroeletrolítico/terapia
12.
Cardiol Young ; 29(3): 319-324, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30675832

RESUMO

AimThe present study aimed to evaluate systolic and diastolic myocardial function in children and adolescents with congenital adrenal hyperplasia. METHODS: The study included 44 children with the diagnosis of classic congenital adrenal hyperplasia and 39 healthy children whose age, pubertal status, and gender were similar to those of the patient group. Anthropometric parameters and 17-hydroxyprogesterone levels were measured, and bone age was calculated. The average daily hydrocortisone dose was calculated over the last 1-year file records. Hyperandrogenic state was defined according to bone age SD score (⩾2) and 17-hydroxyprogesterone levels (>10 ng/ml). Echocardiographic examinations were assessed by conventional two-dimensional Doppler echocardiography and tissue Doppler imaging. RESULTS: Patients had higher morphological parameters, such as left ventricular end-systolic diameter, interventricular septal thickness at end diastole, left ventricular posterior wall thickness at end diastole, left ventricular mass and index, than the control group (p<0.05). On pulsed-wave and tissue Doppler echocardiography, significant subclinical alterations were observed in systolic (isovolumic contraction time), diastolic (isovolumic relaxation time), and global left ventricular functional (myocardial performance index) parameters in the congenital adrenal hyperplasia group compared to the control group (p<0.05). In partial correlation analyses, after controlling the effect of hyperandrogenism, the mean hydrocortisone dosage was positively correlated with isovolumic relaxation time in congenital adrenal hyperplasia group (p<0.05). CONCLUSION: This study demonstrated that the patients with congenital adrenal hyperplasia are at risk for left ventricular hypertrophy, systolic and diastolic myocardial subclinical alterations. Overtreatment may be responsible for the increased risk of myocardial dysfunction in patients with congenital adrenal hyperplasia.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Ventrículos do Coração/fisiopatologia , Hidrocortisona/uso terapêutico , Hipertrofia Ventricular Esquerda/etiologia , Função Ventricular Esquerda/fisiologia , 17-alfa-Hidroxiprogesterona/sangue , Hiperplasia Suprarrenal Congênita/sangue , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Biomarcadores/sangue , Criança , Diástole , Ecocardiografia Doppler de Pulso , Feminino , Glucocorticoides/uso terapêutico , Ventrículos do Coração/diagnóstico por imagem , Humanos , Hipertrofia Ventricular Esquerda/diagnóstico , Hipertrofia Ventricular Esquerda/fisiopatologia , Masculino , Sístole
13.
Indian J Pediatr ; 86(6): 496-502, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30697677

RESUMO

OBJECTIVE: To prospectively assess the growth parameters in a cohort of children with classical 21-hydroxylase deficiency congenital adrenal hyperplasia, comprehensively profile their clinical data and evaluate the prevalence of testicular adrenal rest tumors among affected boys. METHODS: Children with congenital adrenal hyperplasia aged 0-18 y were prospectively followed up for six mo to 2 y (mean follow-up: 17 ± 6 mo). Baseline data were obtained by interviewing parents and from clinic records. Anthropometry, biochemical parameters, X-ray for bone age, and ultrasound scrotum (in boys >5 y) for testicular adrenal rest tumors were performed. RESULTS: Among the 81 children (32 boys, 49 girls), two-thirds (57) had salt-wasting and the remaining had simple virilizing type and the mean age at enrolment was 6.2 ± 4.9 y. The overall height standard deviation score was -0.6 (-2.0 to 0.8) with a greater compromise in children in the age groups 0-2 y and > 10 y and those with salt-wasting type. Overall, 25 (31%) children had short stature and 45 (55.6%) had growth velocity below the reference range. Bone age advancement beyond 2 standard deviation score was seen in 46% of children assessed. Testicular adrenal rest tumors were detected in 5 out of 21 boys (23.8%). CONCLUSIONS: The auxological pattern observed in this homogenously-managed Indian pediatric cohort with congenital adrenal hyperplasia highlights that infancy and peri-pubertal age groups are the most vulnerable, reiterating the importance of diligent growth monitoring. The high prevalence of testicular adrenal rest tumors merits the incorporation of annual ultrasound in the follow-up protocol of these patients.


Assuntos
Hiperplasia Suprarrenal Congênita/patologia , Desenvolvimento Infantil , Adolescente , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/terapia , Tumor de Resto Suprarrenal/etiologia , Fatores Etários , Estatura , Criança , Pré-Escolar , Feminino , Humanos , Índia , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Estudos Prospectivos , Neoplasias Testiculares/etiologia
14.
J Clin Endocrinol Metab ; 104(5): 1866-1870, 2019 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-30476142

RESUMO

CONTEXT: Lipoid congenital adrenal hyperplasia (LCAH) is characterized by a disorder of steroidogenesis in both adrenal glands and gonads. 46,XX patients with classic LCAH usually have thelarche and menarche but show anovulatory menstruations and subsequent premature menopause. Only three patients with classic LCAH have been reported to successfully achieve delivery with the aid of assisted reproductive therapies for conception and progesterone replacement therapy during early pregnancy. In contrast, pubertal development and pregnancy outcomes in patients with nonclassic LCAH have not been fully elucidated. CASE DESCRIPTION: We report four Japanese women who had a diagnosis of primary adrenal insufficiency during infancy or childhood and carried compound heterozygous STAR mutations (p.Gln258* and p.Arg188His, p.Gln258* and p.Met225Thr, and p.Gln258* and p.Arg272Cys). In all four patients, thelarche and menarche spontaneously occurred from 10 to 11 years of age and from 12 to 14 years of age, respectively. Subsequently, their menstruation cycles were regular at almost 1-month intervals. Patient 1 conceived naturally twice, and patient 2 conceived with the use of clomiphene citrate for ovulation induction. These two patients maintained the pregnancies without progesterone replacement therapy and successfully delivered children. CONCLUSION: Patients with nonclassic LCAH maintain ovarian function, which enables normal pubertal development and a successful pregnancy outcome without progesterone replacement therapy.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/fisiopatologia , Hiperplasia Suprarrenal Congênita/fisiopatologia , Transtorno 46,XY do Desenvolvimento Sexual/fisiopatologia , Resultado da Gravidez , Puberdade/fisiologia , Transtornos 46, XX do Desenvolvimento Sexual/complicações , Transtornos 46, XX do Desenvolvimento Sexual/tratamento farmacológico , Adolescente , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Adulto , Transtorno 46,XY do Desenvolvimento Sexual/complicações , Transtorno 46,XY do Desenvolvimento Sexual/tratamento farmacológico , Feminino , Terapia de Reposição Hormonal , Humanos , Gravidez , Prognóstico , Adulto Jovem
15.
Indian J Pediatr ; 86(2): 154-158, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30097840

RESUMO

OBJECTIVES: To retrospectively assess growth of children with congenital adrenal hyperplasia (CAH) with special reference to puberty and to assess longitudinal growth and final height of subset of children with CAH. METHODS: A retrospective analysis of 30 children (14 boys) with classic CAH (11 salt wasters, 19 simple virilisers) followed up for a mean duration of 9.9 ± 2.4 y (Study period December 2002 through December 2016) was performed. Height Z scores, target height Z scores, height velocities and laboratory parameters were analysed. RESULTS: Children were treated with hydrocortisone in a mean dose of 15.7 ± 3.3 mg/m2/d. Mean 17-hydroxy progesterone in boys and girls were 10.8 ± 6.7 ng/ml and 11.3 ± 9.3 ng/ml respectively. Fifteen children (7 boys) developed central precocious puberty at mean age of 7.6 ± 1.8 y and 13 were treated with GnRH analogues for 3.5 y. Of all patients, 18 (10 girls, 8 boys) reached final height at a mean age of 14.2 ± 1.6 y. Mean final height achieved was 158.0 ± 8.5 cm in boys [target height (TH) -165.5 ± 3.8 cm] and in girls it was 149.9 ± 6.7 cm [target height (TH) 154.7 ± 6.4 cm]. Final height standard deviation scores (SDS) for boys and girls were - 2.06 ± 1.1 (TH-SDS -1.06 ± 0.5) and - 1.47 ± 1.1 (TH-SDS -0.56 ± 1.2) respectively and were not significantly different from target height Z scores (p > 0.05). Growth velocity was attenuated during pubertal years. CONCLUSIONS: Monitoring growth and puberty in children with CAH is critical for optimizing final height.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Fludrocortisona/uso terapêutico , Crescimento/efeitos dos fármacos , Crescimento/fisiologia , Hidrocortisona/uso terapêutico , 17-alfa-Hidroxiprogesterona/sangue , Administração Oral , Adolescente , Hormônio Adrenocorticotrópico/sangue , Estatura/efeitos dos fármacos , Estatura/fisiologia , Índice de Massa Corporal , Criança , Eletrólitos/sangue , Feminino , Humanos , Índia , Masculino , Progesterona/sangue , Estudos Retrospectivos , Fatores Sexuais , Maturidade Sexual/efeitos dos fármacos , Testosterona/sangue , Resultado do Tratamento
16.
J Clin Res Pediatr Endocrinol ; 11(1): 61-69, 2019 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-30282618

RESUMO

Objective: Epicardial fat thickness (EFT) is an emerging cardio-metabolic risk factor and has been shown to be related to atherosclerosis. EFT has not been studied in the context of CAH. This study aimed to evaluate EFT in children with CAH and its relation to carotid artery intima-media thickness (CA-IMT) and left ventricular (LV) functions. Methods: Thirty-six children with classical CAH were compared with 36 healthy controls. All patients had confirmed CAH and were receiving steroid substitution therapy. Patients and controls underwent anthropometric evaluation, measurement of fasting lipids, glucose, insulin, homeostasis model assessment for insulin resistance (HOMA-IR). LV functions and EFT were assessed using conventional echocardiography. Duplex ultrasonography was used to measure CA-IMT. Results: Compared to controls, patients had greater EFT (p=0.001), CA-IMT (p=0.01), LV mass index (LVMI) (p=0.001) and prolonged mitral deceleration time (DcT) (p=0.01). CAH patients also had significantly worse HOMA-IR (p=0.001) than controls. Abnormalities were worse in uncontrolled CAH on treatment. Multivariate analysis in CAH subjects showed EFT correlated positively with waist circumference odds ratio (OR) [OR=1.9; 95% confidence interval (CI): 1.07-1.14; p=0.01], 17-hydroxyprogesterone [OR=1.6; 95% CI: 1.33-2.89; p=0.05], testosterone concentration (OR=1.7; 95% CI: 1.55-2.13; p=0.01), LVMI (OR=1.14; 95% Cl: 1.08-1.13; p=0.01), mitral DcT (OR=2.25; 95% CI: 1.15-2.05; p=0.01) and CA-IMT (OR=1.6; 95% CI: 1.15-2.05; p=0.01). Conclusion: EFT is elevated in children with classical CAH, particularly in those with poor control, and is correlated with CA-IMT, LV mass and mitral DcT. Measurement of EFT in CAH children may help to identify those at high risk of developing LV dysfunction and subclinical atherosclerosis.


Assuntos
Tecido Adiposo/diagnóstico por imagem , Hiperplasia Suprarrenal Congênita , Doenças Cardiovasculares , Espessura Intima-Media Carotídea , Pericárdio/diagnóstico por imagem , Função Ventricular Esquerda/fisiologia , Adolescente , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico por imagem , Hiperplasia Suprarrenal Congênita/metabolismo , Hiperplasia Suprarrenal Congênita/fisiopatologia , Doenças Cardiovasculares/diagnóstico por imagem , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/metabolismo , Doenças Cardiovasculares/fisiopatologia , Estudos de Casos e Controles , Criança , Estudos Transversais , Ecocardiografia , Feminino , Humanos , Masculino
17.
Minerva Endocrinol ; 44(2): 205-220, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29105481

RESUMO

Bilateral macronodular adrenal hyperplasia (BMAH) is a relatively rare cause of Cushing's Syndrome (CS). In recent years, growing evidence has shown that steroidogenesis is regulated by aberrant G-protein-coupled receptors (GPCRs) expression and their ligands, in a significant proportion of patients with BMAH. The screening of patients with overt or subclinical CS demonstrates the frequent expression of several GPCRs that opened the option to potential therapeutic applications. Thus, several studies have demonstrated that targeting the involved receptor with specific antagonists may result in a more or less effective control of cortisol excess. Bilateral adrenalectomy has traditionally been considered the treatment of choice for BMAH. However, unilateral adrenalectomy has been recently proposed as an alternative in selective patients to avoid the long-term necessity of gluco/mineralocorticoid replacement. Adrenal steroidogenesis inhibitors remain a valid option when medical treatment is needed due to high surgical risk.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Síndrome de Cushing/etiologia , Síndrome de Cushing/terapia , Adrenalectomia , Humanos , Receptores Acoplados a Proteínas-G/antagonistas & inibidores
19.
J Ayub Med Coll Abbottabad ; 30(3): 458-462, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30465385

RESUMO

Non-classic congenital adrenal hyperplasia is a genetic condition caused by deficiency of 21- hydroxylase deficiency (NCAH). It is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. We present four cases of non-classical congenital adrenal hyperplasia presented in gynae OPD foundation university medical college Fauji foundation hospital from Jan 2016 to March 2017. The presenting complaints were hirsuitim, menstrual problem and virilization of genitalia. Two girls were having primary amenorrhea while rests of two were having secondary amenorrhea. Two patients were already diagnosed as non-classical congenital adrenal hyperplasia due to ambiguous genitalia at the time of birth while the rest of two with marked clitoromegaly were diagnosed during workup in gynae OPD. Menarche was achieved successfully among those with primary amenorrhea after treatment. All four girls were referred to plastic surgery for clitoral reduction surgery. The post-surgery patient satisfaction level was high. Correct diagnosis of the disease can cure the patient instead of letting her live a life of being labeled with social stigmata of an intersex individual.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/etiologia , Hiperplasia Suprarrenal Congênita/diagnóstico , Amenorreia/etiologia , Clitóris/patologia , Transtornos do Desenvolvimento Sexual/etiologia , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Adolescente , Hiperplasia Suprarrenal Congênita/complicações , Clitóris/cirurgia , Feminino , Hirsutismo/etiologia , Humanos
20.
Rev Int Androl ; 16(3): 128-130, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30300134

RESUMO

We report a case of congenital adrenal hyperplasia in a 29 year old patient, who presented with testicular pain, bilateral testicular masses, and oligospermia. Ultrasonography confirmed, in both testis, the presence of heterogeneous and hypoechoic lesions with irregular borders and internal and peripheral vascularization. Seric tumor markers were negative. The patient was scheduled for perioperative testicular biopsy and bilateral orchiectomy. Perioperative biopsy was suggestive of testicular adrenal rest tumor and not additional procedure was performed. Treatment was initiated with high doses of glucocorticoids, decreasing the size of testicular masses and testicular pain was alleviated.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Tumor de Resto Suprarrenal/diagnóstico , Neoplasias Testiculares/diagnóstico , Tumor de Resto Suprarrenal/etiologia , Tumor de Resto Suprarrenal/terapia , Adulto , Biópsia , Glucocorticoides/administração & dosagem , Humanos , Masculino , Oligospermia/etiologia , Orquiectomia/métodos , Dor/etiologia , Neoplasias Testiculares/etiologia , Neoplasias Testiculares/terapia , Testículo/diagnóstico por imagem , Testículo/patologia , Ultrassonografia
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